Table 2 Comparison of consensus genotypes and SNVs detection accuracy of deep-sequenced data amplified by MDA and MALBAC
| Â | Allele type | Golden control for SW480 cells | Â | ||||
|---|---|---|---|---|---|---|---|
HOM ref. | HOM mut. | HET ref. | Total | Consistency (%) | |||
1,762,437.00 | 403,431.00 | 173,098.00 | 2,338,966.00 | Â | |||
MALBAC mean | HOM ref. | 2 | 849,057.40 | - | - | Â | Â |
1 | - | - | 10,352.40 | 859,455.20 | 98.79 | ||
0 | - | 45.40 | - | Â | Â | ||
HOM mut. | 2 | - | 266,889.00 | - | Â | Â | |
1 | - | - | 18,507.40 | 285,625.60 | 93.44 | ||
0 | 213.40 | 11.20 | 4.60 | Â | Â | ||
HET ref. | 2 | - | - | 58,948.80 | Â | Â | |
1 | 2,287.20 | 6,860.40 | 8.80 | 68,105.20 | 86.56 | ||
0 | - | 0.00 | - | Â | Â | ||
Total | 851,558.00 | 273,806.00 | 87,822.00 | 1,213,186.00 | 96.84 | ||
Coverage (%) | 48.32 | 67.87 | 50.74 | 51.87 | - | ||
| Â | Allele type | Golden control for YH cells | Â | ||||
HOM ref. | HOM mut. | HET ref. | Total | Consistency (%) | |||
1,584,649.00 | 270,225.00 | 351,490.00 | 2,206,364.00 | Â | |||
MDA mean | HOM ref. | 2 | 1,373,228.00 | - | - | Â | Â |
1 | - | - | 21,871.00 | 1,395,113.33 | 98.43 | ||
0 | - | 14.33 | - | Â | Â | ||
HOM mut. | 2 | - | 256,682.67 | - | Â | Â | |
1 | - | - | 27,674.00 | 284,365.67 | 90.26 | ||
0 | 7.33 | 1.67 | 0.00 | Â | Â | ||
HET ref. | 2 | - | - | 256,185.67 | Â | Â | |
1 | 212.67 | 326.33 | 2.33 | 256,727.00 | 99.79 | ||
0 | - | 0.00 | - | Â | Â | ||
Total | 1,373,448.00 | 257,025.00 | 305,733.00 | 1936,206.00 | 97.41 | ||
Coverage (%) | 86.67 | 95.12 | 86.98 | 87.76 | - | ||